Chapter

Bestrophinopathies

Bart P. Leroy

in Genetic Diseases of the Eye, Second Edition

Second edition

Published on behalf of © Elias I. Traboulsi

Published in print January 2012 | ISBN: 9780195326147
Published online October 2012 | e-ISBN: 9780199975181 | DOI: http://dx.doi.org/10.1093/med/9780195326147.003.0028

Series: Oxford Monographs on Medical Genetics

Bestrophinopathies

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Best vitelliform macular dystrophy (BVMD) was the first inherited retinal condition in which mutations in the BEST1 gene were shown to be the underlying cause.1 Other mutations in the same gene are now known to cause both autosomal dominant vitreoretinochoroidopathy2 (ADVIRC) and autosomal recessive bestrophinopathy3 (ARB), two conditions that also affect the retina but can equally influence overall ocular development. Hence, this group of conditions is called bestrophinopathies. Common to all, the primary pathogenetic mechanism seems to be situated at the level of the retinal pigment epithelium (RPE), with secondary photoreceptor and potentially generalized ocular developmental involvement.

Chapter.  7413 words.  Illustrated.

Subjects: Clinical Genetics ; Ophthalmology

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